Research Article

[Retracted] Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer

Table 1

Showing the details of ClinVar pathogenic mutations in BRCA1 and BRCA2 genes in 141 patients with ovarian cancer.

Patient IDTissue typeGeneExonMutated siteProteinVariant types

1Tumor tissueBRCA110c.3286C>Tp.Gln1096TerNonsense
2Tumor tissueBRCA110c.784C>Tp.Gln262TerNonsense
3Tumor tissueBRCA110c.3214delCp.Leu1072TerNonsense
4Peripheral bloodBRCA110c.2110_2111delp.Asn704Cysfs7Frameshift
5Tumor tissueBRCA110c.2110_2111delp.Asn704Cysfs7Frameshift
6Peripheral bloodBRCA110c.4065_4068delp.N1355Kfs10Frameshift
7Tumor tissueBRCA110c.4065_4068delp.N1355Kfs10Frameshift
8Tumor tissueBRCA110c.2388_2389delp.Thr796fsFrameshift
9Tumor tissueBRCA110c.3868dupAp.C1291Mfs4Frameshift
10Tumor tissueBRCA110c.1504_1508delp.Leu502fsFrameshift
11Peripheral bloodBRCA110c.2889_2890delp.G964Tfs6Frameshift
12Tumor tissueBRCA110c.1276delp.S426Qfs4Frameshift
13Tumor tissueBRCA110c.2302delAp.Ser768Valfs24Frameshift
14Tumor tissueBRCA112c.4357+1G>A/Splicing mutation
15Tumor tissueBRCA113c.4485-2A>C/Splicing mutation
16Tumor tissueBRCA114c.4566G>Cp.Tyr1522TerNonsense
17Tumor tissueBRCA115c.4756G>Tp.Glu1586TerNonsense
18Tumor tissueBRCA123c.5468-2A>G/Splicing mutation
19Tumor tissueBRCA123c.5511_5524delp.W1837Cfs38Deletion
20Tumor tissueBRCA29c.755_758delp.Asp252Valfs24Frameshift
21Tumor tissueBRCA211c.3109C>Tp.Gln1037TerNonsense
22Peripheral bloodBRCA211c.3109C>Tp.Gln1037TerNonsense
23Tumor tissueBRCA211c.C3523Tp.Gln1175TerNonsense
24Tumor tissueBRCA211c.5576_5579delTTAAp.Idel1859LysfsFrameshift
25Tumor tissueBRCA211c.5164_5165delAGp.Ser1722TyrfsFrameshift
26Tumor tissueBRCA211c.2176delGp.V726Ffs4Frameshift
27Peripheral bloodBRCA222c.8915delTp.leu2972Cysfs4Deletion